title: High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2.
abstract: The identification and mapping of genes within the Down syndrome region is an important step toward a complete understanding of the pathogenesis of this disorder. The objective of the present work is to identify and map genes within the Down syndrome region-2. Chromosome 21 cosmid clones corresponding to "cosmid pockets" 121-124 have been first used as a starting material for generation of a single high resolution integrated cosmid/PAC contig with full EcoRI/SmaI restriction map. The integrated contig has been further anchored to genetic and physical maps through the positioning of 6 markers in the following order: ACTL5-D21S3-684G2T7-D21S71-D21S343-D21S 268. The entire contig covers 342 kb of the Down syndrome region-2 of chromosome 21. Subsequently, we have isolated, identified, and mapped four novel cDNAs which we have named N143, N144, CHD/333, and 90/3H1 and a potentially transcribed genomic sequence (E05133T7). Additionally, we have accurately located a previously described gene, the WRB gene, between the markers ACTL5-D21S268 within this Down Syndrome Region-2.
authors.affiliation: Human Genome Laboratory, Faculty of Medicine, University of Barcelona, Spain.
authors.forename: J M
authors.initials: JM
authors.lastname: Vidal-Taboada
authors.forename: S
authors.initials: S
authors.lastname: Bergoñón
authors.forename: M
authors.initials: M
authors.lastname: Sánchez
authors.forename: C
authors.initials: C
authors.lastname: López-Acedo
authors.forename: J
authors.initials: J
authors.lastname: Groet
authors.forename: D
authors.initials: D
authors.lastname: Nizetic
authors.forename: A
authors.initials: A
authors.lastname: Egeo
authors.forename: P
authors.initials: P
authors.lastname: Scartezzini
authors.forename: N
authors.initials: N
authors.lastname: Katsanis
authors.forename: E M
authors.initials: EM
authors.lastname: Fisher
authors.forename: J M
authors.initials: JM
authors.lastname: Delabar
authors.forename: R
authors.initials: R
authors.lastname: Oliva
mesh_terms: D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D003360:Cosmids / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D015246:Deoxyribonuclease EcoRI / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D004314:Down Syndrome / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D008969:Molecular Sequence Data; D015183:Restriction Mapping; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: D018076:DNA, Complementary; D005819:Genetic Markers; D015246:Deoxyribonuclease EcoRI; C025651:CCCGGG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific